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. 2018 Oct 4;56(2):81–88. doi: 10.1136/jmedgenet-2017-105235

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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The mDDPCR results of Family 13. Detection of PCDH19 c.370G>A mutation in Proband 13’s blood, her sister’s blood and their father’s multiple tissues (blood, buccal epithelium, finger nails, saliva, urine and purified sperms). The wild-type and mutant population are circled in the top panels and bottom panels, respectively, with the % MUT indicated in the top right corner (MUT drops/total of WT+MUT droplets). MAF, mutant allelic fraction; mDDPCR, microdroplet digital PCR; WT, wild type.